IBA57

The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]

Description

Iron-sulfur cluster assembly factor IBA57

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (228165804 - 228182257)

Ensembl ID

ENSG00000181873  (ver. 103.38)

Orthologs

Mouse Iba57: ENSMUSG00000049287

UniProt

Q5T440

neXtProt

NX_Q5T440

Human splice variants
Mouse splice variants

Protein structure